Canonical Allele Identifier: CA363510904

Gene: AGER

Linked Data

• gnomAD v4: 6-32181612-T-C
• MyVariant Identifiers: chr6:g.32149389T>C (hg19) ; chr6:g.32181612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181612T>C , CM000668.2:g.32181612T>C	GRCh38
NC_000006.11:g.32149389T>C , CM000668.1:g.32149389T>C	GRCh37
NC_000006.10:g.32257367T>C	NCBI36
NG_029868.1:g.7711A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.985A>G MANE Select	ENSP00000364217.4:p.Thr329Ala
ENST00000375055.6:c.985A>G	ENSP00000364195.2:p.Thr329Ala
ENST00000375065.6:c.172A>G	ENSP00000364206.6:p.Thr58Ala
ENST00000375067.7:c.830A>G	ENSP00000364208.3:p.Asn277Ser
ENST00000375069.7:c.1033A>G	ENSP00000364210.4:p.Thr345Ala
ENST00000375070.7:c.662-135A>G	ENSP00000364211.4:n.662-135A>G
ENST00000375076.8:c.985A>G	ENSP00000364217.4:p.Thr329Ala
ENST00000438221.6:c.1033A>G	ENSP00000387887.2:p.Thr345Ala
ENST00000469940.5:n.24A>G
ENST00000473619.5:n.527A>G
ENST00000484849.5:n.1192A>G
ENST00000488669.5:n.527A>G
ENST00000620802.4:c.283-179A>G	ENSP00000484081.1:n.283-179A>G
NM_001136.4:c.985A>G	NP_001127.1:p.Thr329Ala
NM_001206929.1:c.1033A>G	NP_001193858.1:p.Thr345Ala
NM_001206932.1:c.943A>G	NP_001193861.1:p.Thr315Ala
NM_001206934.1:c.1033A>G	NP_001193863.1:p.Thr345Ala
NM_001206936.1:c.933A>G	NP_001193865.1:p.Gln311=
NM_001206940.1:c.985A>G	NP_001193869.1:p.Thr329Ala
NM_001206954.1:c.843A>G	NP_001193883.1:p.Gln281=
NM_001206966.1:c.985A>G	NP_001193895.1:p.Thr329Ala
NM_172197.2:c.830A>G	NP_751947.1:p.Asn277Ser
NR_038190.1:n.1268A>G
XM_017010328.2:c.984A>G	XP_016865817.1:p.Gln328=
XR_001743189.2:n.1049A>G
XR_001743190.2:n.1001A>G
NM_001136.5:c.985A>G MANE Select	NP_001127.1:p.Thr329Ala
NM_001206932.2:c.943A>G	NP_001193861.1:p.Thr315Ala
NM_001206936.2:c.933A>G	NP_001193865.1:p.Gln311=
NM_001206940.2:c.985A>G	NP_001193869.1:p.Thr329Ala
NM_001206954.2:c.843A>G	NP_001193883.1:p.Gln281=
NM_001206966.2:c.985A>G	NP_001193895.1:p.Thr329Ala
NM_172197.3:c.830A>G	NP_751947.1:p.Asn277Ser
NR_038190.2:n.1199A>G
NM_001206929.2:c.1033A>G	NP_001193858.1:p.Thr345Ala
NM_001206934.2:c.1033A>G	NP_001193863.1:p.Thr345Ala